title: Functional single-nucleotide variant of HSPD1 in sudden infant death syndrome.
abstract: BACKGROUND
  An insufficient stress response due to a genetically impaired heat shock protein (Hsp) could play a role in the pathogenesis in a subgroup of sudden infant death syndrome (SIDS) cases. Herein, we are the first to investigate whether a functionally impairing and thus pathogenic variant of the gene for Hsp60, encoded by HSPD1 (rs72466451), is correlated with the occurrence of SIDS.
  
  
  METHODS
  In a case-control study of a series of 133 cases of SIDS and 192 gender-matched German Caucasian control cases, the occurrence and distribution of the HSPD1 single-nucleotide variant (SNV) was analyzed using SNV genotyping by minisequencing.
  
  
  RESULTS
  The results show significantly increased frequency of the pathogenic variant of the HSPD1 SNV in a subgroup (4.5%) of SIDS cases.
  
  
  CONCLUSIONS
  The results suggest that the pathogenic variant of rs72466451 may play a role in a subgroup of SIDS cases with impaired Hsp60-mediated stress response.
authors.affiliation: Department of Forensic Genetics, Institute of Legal Medicine, University of Bonn, Bonn, Germany.
authors.forename: Cornelius
authors.initials: C
authors.lastname: Courts
authors.forename: Melanie
authors.initials: M
authors.lastname: Grabmüller
authors.forename: Burkhard
authors.initials: B
authors.lastname: Madea
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D018834:Chaperonin 60 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D005858:Germany; D006801:Humans; D007223:Infant; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013312:Stress, Physiological / Q000235:genetics* / Q000502:physiology; D013398:Sudden Infant Death / Q000235:genetics*
chemical_list: D018834:Chaperonin 60; D017931:DNA Primers; C060293:HSPD1 protein, human; D024101:Mitochondrial Proteins